I119S (p.Ile119Ser) variant of PIEZO1 (Piezo-type mechanosensitive ion channel component 1)
I119S (p.Ile119Ser) in PIEZO1 (Piezo-type mechanosensitive ion channel component 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
I119S (p.Ile119Ser) variant details
- p.Ile119Ser
- gnomAD rs1323211441
- Missense
- Variant Prioritization Score for Impact Estimate 0.304
- REVEL 0.32
- ESM-1b 0.00
- AlphaMissense 0.41
- MetaLR 0.22
- MetaSVM -0.80
- CADD 21.40
- Most common in the Ashkenazi Jewish population (allele frequency 0.0052)
- Structural context available